GM20835

GM20835 LCL from B-Lymphocyte

Description:

ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD
PROTEASE INHIBITOR 1; PI

Affected:

No

Sex:

Female

Age:

60 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
GeT-RM Samples

Class

Other Disorders of Known Biochemistry

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

PI type is MS

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

MUTATION VERIFICATION

For multiply confirmed mutations by the GeT-RM program please click here: MTHFR SERPINA1 RET BRCA1 and BRCA2 Reference Materials characterized by GeT-RM

Gene

Chromosomal Location

14q32.1

Allelic Variant 1

107400.0013; PI S

Identified Mutation

GLU264VAL ON M1V; Owen and Carrell (1976) and Yoshida et al. (1977) found substitution of valine for glutamic acid at position 264 in the S variant of alpha-1-antitrypsin. See Long et al. (1984). Curiel et al. (1989) concluded that the S-type AAT protein is degraded intracellularly before secretion. PI*S homozygotes are at no risk of emphysema, but compound heterozygotes with Z or a null allele have a mildly increased risk. Because of the high frequency of the PI*S allele (0.02-0.04 in U.S. Caucasians), such compound heterozygotes are relatively frequent.

Phenotypic Data

Remarks

PI type is MS

Publications

Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV, Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing The Journal of molecular diagnostics : JMD11:553-61 2009

PubMed ID: 19767587